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The membrane-associated protein encoded by ABCA3 is a member of the superfamily of ATP-binding cassette (ABC) transporters.
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a mutation (E292V) located in the first cytoplasmic loop of ABCA3 did not significantly affect lipid transport, but rather resulted in smaller vesicles. In addition to these findings, the assay used in this work for analysing the PC-lipid transport into ABCA3 positive vesicles will be useful to screen for compounds susceptible to restore function in mutated ABCA3 protein.
Understanding the relationship between cholesterol and inflammation in the lung, and the role that ABC (显示 ABCB6 ELISA试剂盒) transporters play in this may illuminate new pathways to target for the treatment of inflammatory lung diseases
two ABCA3 mutations (p.R288K and p.R1474W) identified among term and late-preterm infants with respiratory distress syndrome, were characterized.
1153 patients with diffuse parenchymal lung disease (DPLD (显示 PLD ELISA试剂盒)) were registered in the KLR (显示 KLRK1 ELISA试剂盒). The DNA of 242 of these patients was sequenced for ABCA3 mutations. 69 patients had at least one variation in the ABCA3 gene. Of 40 patients with two disease-causing ABCA3 mutations, 22 patients were homozygous and 18 heterozygous.
Genes ABCC7, A3, A8, A12, and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels.
transporter oligomerization is crucial for ABCA3 function.
The TGGAG haplotype may be a risk factor for Respiratory Distress Syndrome in preterm infants in this Chinese population. The haplotype TGGAG was significantly more frequent in RDS infants than in non-RDS infants.
Rare mutations in surfactant-associated genes contribute to neonatal respiratory distress syndrome. We resequenced all exons of the ATP-binding cassette member A3 (ABCA3) and we found three ABCA3 mutations in the Han [minor allele frequency (MAF (显示 MAF ELISA试剂盒))=0.003] and 7 in the Zhuang (MAF (显示 MAF ELISA试剂盒)=0.011) cohorts. The contribution of these rare ABCA3 mutations to disease burden in the south China population is still unknown.
The clinical features of ABCA3 mutations, including onset, severity or clinical course are very heterogeneous. In the two siblings we had a lightly discordant course that could be explained by exposure to different environmental stresses or variable penetrance.
These results provide evidence of ABCA3 as an MLF efflux transporter in human macrophages and support its role in the direct antileishmanial effect of this alkylphosphocholine drug.
Abca3 haploinsufficiency results in an altered biochemical and lung mechanical phenotype, as well as a greater lung injury induced by hyperoxia or mechanical ventilation.
The majority of mice in which Abca3 was deleted in alveolar type II cells died shortly after birth from respiratory distress related to surfactant deficiency.
Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter (显示 TAP2 ELISA试剂盒) protein ABCA3
showed for the first time expression and subcellular localization of abcb11 (显示 ABCB11 ELISA试剂盒) and abca3 in mouse kidney
ABCA3 is necessary for lamellar body biogenesis, surfactant protein-B processing, and lung development late in gestation.
The phenotype of respiratory failure immediately after birth corresponds to the clinical course of severe ABCA3 mutations in human newborns.
Abca3 gene expression is mediated by discrete cis-acting cassettes that mediate pulmonary cell- and lipid-sensitive pathways regulating surfactant homeostasis.
Iportance of a functional catalytic cycle in lipid transport of ABCA3 suggestsa pathophysiological mechanism of pediatric intterstitial lung disease due to ABCA3 mutation.
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.
ATP-binding cassette, sub-family A member 3
, ATP-binding cassette, sub-family A (ABC1), member 3
, ATP-binding cassette sub-family A member 3
, ATP-binding cassette sub-family A member 3-like
, ABC transporter 3
, ABC-C transporter
, ATP-binding cassette transporter 3